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  • Title: Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis.
    Author: Farrell DF, Clark AF, Scott CR, Wennberg RP.
    Journal: Science; 1975 Mar 21; 187(4181):1082-4. PubMed ID: 803713.
    Abstract:
    A complete deficiency in the pyruvate dehydrogenase system activity contributed to the death of a 6-month-old infant with congenital lactic acidosis. The enzymatic block could be isolated to the first component, pyruvate decarboxylase (E1) of the pyruvate dehydrogenase complex. This enzymatic deficiency allowed a demonstration of an "intercomplex" exchange of the components of the mammalian pyruvate dehydrogenase system and indicated that the first component is normally present in an apparent excess.
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